Too often, due to a complex combination of fear, stigma, financial, and family implications, individuals affected by devastating rare genetic conditions like Huntington’s disease have been marginalized and misunderstood. Today, at the Vatican, some very high profile and moving words were spoken to a group of patients living with Huntington’s disease by Pope Francis I.
“May none of you ever feel you are alone. May none of you feel you are a burden. May no one feel the need to run away”.
Pope Francis I has made his stance as a supporter of healthcare equality for people living with rare diseases clear in the past through lectures such as his November 2016 speech entitled, “Towards a Culture of Health that is Welcoming and Supportive at the Service of People with Rare and Neglected Pathologies.” at the Pontifical Council for Health Care Worker’s conference. Where he said:
“The human person is the eminent value, it follows that each person, above all a person who suffers, because of a ‘rare’ or ‘neglected’ disease as well, without any hesitation deserves every kind of commitment in order to be welcomed, treated and, if possible, healed.”
Today, Pope Francis I took his public commitment to rare and genetic conditions a step further when he held a special audience with families, patients, and caregivers living with Huntington’s disease. The purpose of the meeting was to help remove the social stigma and superstition surrounding the condition while boosting awareness of Huntington’s disease and encouraging scientific research into the condition. Ami Rosen, the clinical director of the HDSA Center of Excellence at Emory University said,
“This meeting puts a spotlight on HD, a genetic disease that devastates the patients mentally and physically and drains the families of both emotional and financial resources. We hope the Pope’s attention will reinvigorate the drive towards better treatment and a cure for HD.”
This event will kick off the Huntington’s disease community’s global “Hidden No More” awareness campaign and the meeting is the culmination of hard work and determination in the global Huntington’s disease advocacy and scientific community. As Huntington’s Disease Society of America (HDSA) CEO Louise Vetter emphasized in a previous article about the event,
“As a global leader, Pope Francis I has the power to elevate the conversation about HD to an international stage with a call for compassion – and action”.
Huntington’s disease (HD) is a genetic condition that causes decline or deterioration of brain cells, called neurons, that are located in several areas of the brain including areas that control movement, cognition and behavior. The first symptoms of HD may be personality and behavioral changes, psychiatric problems, cognitive decline (affecting mostly processing, judgment, and logic). This may lead to a long delay in getting diagnosed. HD is also characterized by choreatic movements, which are rapid uncontrolled muscle movements (tics or jerks). These movements can occur all over the body. Although a second FDA approved treatment for the life impacting involuntary movements (chorea) of Huntington’s disease, Austedo (deutetrabenazine), was approved in April of 2017, it does not stop disease progression and there is currently no cure for Huntington’s disease.
As changes in United States’ healthcare policy are being developed on pre-existing conditions and coverage of disease focused treatments, increased awareness of genetic diseases is important for the general population and legislators. Healthcare policies have far reaching impact on society when the condition or strong possibility of the condition is diagnosed early in life and when the only treatment that may improve some symptoms of the condition is very expensive. Although pre-existing conditions are usually defined as when health problems start, changes in policies could affect people who are at risk or have a predisposition for a genetic condition. The Pope’s audience today brought increased awareness to this issue in Huntington’s disease and all other genetic conditions.
While ThinkGenetic is a secular company, we are still honored to have Pope Francis I and the Catholic Church as allies in our mission to understand, treat, and bring awareness to rare genetic diseases. You can learn more about Huntington’s disease and ThinkGenetic’s role in the rare genetic disease community on our website. To learn more about Huntington’s disease, access amazing educational resources, and learn about current advocacy and awareness campaigns, visit our wonderful advocacy partner, Huntington’s Disease Society of America (HDSA)’s website.
About the Author: As a Co-Founder of ThinkGenetic, Inc., Dawn Laney is responsible for directing the inclusion of genetic disease information and making important connections to those in the genetic field. As a genetic counselor, assistant professor, and program leader at Emory University in the Department of Human Genetics, Laney received her master’s degree in medical genetics from the Sarah Lawrence College in 1999. She received her certification from the American Board of Genetic Counseling in 2002. Since joining the Emory Division of Medical Genetics in 2002, Laney has been involved in follow-up of abnormal metabolic newborn screening for the state of Georgia, development and management of a genetic infusion center, and lysosomal storage disease clinical care and research. She is currently the program leader for the Emory Lysosomal Storage disease center and director of the Emory Genetic Clinicial Trial Center. She serves on the Emory biomedical IRB committee. Laney is the primary instructor/coordinator for the Developmental Biology and Human Malformation course at Emory University. In 2016 she was awarded an NORD Rare Impact Honoree. She has published six books providing genetic condition information to kids and their families.